超保守性识别出一小部分受到极度限制的发育增强子。

Ultraconservation identifies a small subset of extremely constrained developmental enhancers.

作者信息

Visel Axel, Prabhakar Shyam, Akiyama Jennifer A, Shoukry Malak, Lewis Keith D, Holt Amy, Plajzer-Frick Ingrid, Afzal Veena, Rubin Edward M, Pennacchio Len A

机构信息

Genomics Division, MS 84-171, Lawrence Berkeley National Laboratory, Berkeley, California 94720, USA.

出版信息

Nat Genet. 2008 Feb;40(2):158-60. doi: 10.1038/ng.2007.55. Epub 2008 Jan 6.

DOI:10.1038/ng.2007.55

PMID:18176564

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2647775/

Abstract

Extended perfect human-rodent sequence identity of at least 200 base pairs (ultraconservation) is potentially indicative of evolutionary or functional uniqueness. We used a transgenic mouse assay to compare the embryonic enhancer activity of 231 noncoding ultraconserved human genome regions with that of 206 extremely conserved regions lacking ultraconservation. Developmental enhancers were equally prevalent in both populations, suggesting instead that ultraconservation identifies a small, functionally indistinct subset of similarly constrained cis-regulatory elements.

摘要

至少200个碱基对的超长完美人类-啮齿动物序列同一性（超保守性）可能表明进化或功能上的独特性。我们使用转基因小鼠试验，比较了231个非编码超保守人类基因组区域与206个缺乏超保守性的极度保守区域的胚胎增强子活性。发育增强子在这两个群体中同样普遍，这反而表明超保守性识别出了一小部分功能上无明显差异的、受到类似限制的顺式调控元件子集。